Incidental Mutation 'R4708:Col27a1'
| ID |
355399 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Col27a1
|
| Ensembl Gene |
ENSMUSG00000045672 |
| Gene Name |
collagen, type XXVII, alpha 1 |
| Synonyms |
5730512J02Rik |
| MMRRC Submission |
042017-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4708 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
63132246-63253228 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 63202150 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Arginine
at position 947
(Q947R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043816
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036300]
[ENSMUST00000183913]
[ENSMUST00000184067]
|
| AlphaFold |
Q5QNQ9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036300
AA Change: Q947R
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000043816
Gene: ENSMUSG00000045672
AA Change: Q947R
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
39 |
N/A |
INTRINSIC |
|
TSPN
|
43 |
223 |
1.1e-5 |
SMART |
|
low complexity region
|
325 |
343 |
N/A |
INTRINSIC |
|
low complexity region
|
356 |
372 |
N/A |
INTRINSIC |
|
low complexity region
|
428 |
443 |
N/A |
INTRINSIC |
|
low complexity region
|
455 |
467 |
N/A |
INTRINSIC |
|
low complexity region
|
584 |
597 |
N/A |
INTRINSIC |
|
Pfam:Collagen
|
609 |
670 |
2.1e-10 |
PFAM |
|
Pfam:Collagen
|
666 |
731 |
3.7e-10 |
PFAM |
|
low complexity region
|
790 |
808 |
N/A |
INTRINSIC |
|
low complexity region
|
817 |
838 |
N/A |
INTRINSIC |
|
low complexity region
|
858 |
880 |
N/A |
INTRINSIC |
|
low complexity region
|
886 |
910 |
N/A |
INTRINSIC |
|
low complexity region
|
912 |
946 |
N/A |
INTRINSIC |
|
Pfam:Collagen
|
1012 |
1080 |
2.8e-8 |
PFAM |
|
Pfam:Collagen
|
1033 |
1103 |
3e-9 |
PFAM |
|
Pfam:Collagen
|
1063 |
1130 |
3.4e-9 |
PFAM |
|
low complexity region
|
1150 |
1168 |
N/A |
INTRINSIC |
|
Pfam:Collagen
|
1207 |
1281 |
5.5e-9 |
PFAM |
|
Pfam:Collagen
|
1261 |
1324 |
8.4e-10 |
PFAM |
|
Pfam:Collagen
|
1323 |
1384 |
3.8e-12 |
PFAM |
|
low complexity region
|
1438 |
1466 |
N/A |
INTRINSIC |
|
internal_repeat_4
|
1467 |
1502 |
1.5e-7 |
PROSPERO |
|
internal_repeat_2
|
1468 |
1529 |
1.96e-8 |
PROSPERO |
|
Pfam:Collagen
|
1544 |
1606 |
2.4e-9 |
PFAM |
|
COLFI
|
1644 |
1845 |
1.28e-40 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125504
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149856
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183913
AA Change: Q11R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000139182
Gene: ENSMUSG00000045672
AA Change: Q11R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Collagen
|
1 |
60 |
2.7e-12 |
PFAM |
|
Pfam:Collagen
|
34 |
114 |
6.6e-8 |
PFAM |
|
Pfam:Collagen
|
87 |
163 |
3.6e-9 |
PFAM |
|
low complexity region
|
175 |
202 |
N/A |
INTRINSIC |
|
low complexity region
|
214 |
232 |
N/A |
INTRINSIC |
|
Pfam:Collagen
|
271 |
338 |
9.1e-11 |
PFAM |
|
Pfam:Collagen
|
328 |
388 |
5.4e-11 |
PFAM |
|
Pfam:Collagen
|
387 |
442 |
4.5e-10 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000184067
AA Change: Q332R
|
| SMART Domains |
Protein: ENSMUSP00000139173
Gene: ENSMUSG00000045672
AA Change: Q332R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Collagen
|
23 |
87 |
2.1e-8 |
PFAM |
|
Pfam:Collagen
|
57 |
145 |
8.3e-8 |
PFAM |
|
Pfam:Collagen
|
115 |
200 |
9.9e-8 |
PFAM |
|
low complexity region
|
202 |
223 |
N/A |
INTRINSIC |
|
low complexity region
|
243 |
265 |
N/A |
INTRINSIC |
|
low complexity region
|
271 |
295 |
N/A |
INTRINSIC |
|
low complexity region
|
297 |
331 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
337 |
442 |
5.17e-20 |
PROSPERO |
|
Pfam:Collagen
|
448 |
515 |
1.5e-9 |
PFAM |
|
Pfam:Collagen
|
478 |
543 |
2e-10 |
PFAM |
|
Pfam:Collagen
|
502 |
566 |
2.5e-9 |
PFAM |
|
Pfam:Collagen
|
532 |
617 |
4.4e-7 |
PFAM |
|
Pfam:Collagen
|
594 |
660 |
8.2e-11 |
PFAM |
|
Pfam:Collagen
|
649 |
709 |
1.4e-10 |
PFAM |
|
Pfam:Collagen
|
708 |
769 |
2e-12 |
PFAM |
|
Pfam:Collagen
|
752 |
829 |
5e-8 |
PFAM |
|
Pfam:Collagen
|
878 |
939 |
2.2e-9 |
PFAM |
|
| Meta Mutation Damage Score |
0.0735 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.8%
|
| Validation Efficiency |
97% (68/70) |
| MGI Phenotype |
FUNCTION: This gene encodes the alpha-1 subunit of type XXVII collagen, one of the low abundance fibril-forming collagens found in cartilage. The encoded protein forms a homotrimeric triple helical procollagen that undergoes proteolytic processing during fibril formation. Transgenic mice lacking a portion of the collagenous domain in the encoded protein exhibit skeletal abnormalities, chondrodysplasia and die at birth because of a lung defect. [provided by RefSeq, Dec 2015]
PHENOTYPE: Mice homozygous for an in frame deletion display neonatal lethality, respiratory failure, and severe chondrodysplasia. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610021A01Rik |
G |
A |
7: 41,261,309 (GRCm39) |
G2D |
probably damaging |
Het |
| 4930505A04Rik |
T |
C |
11: 30,404,717 (GRCm39) |
Y62C |
probably damaging |
Het |
| Aadacl4 |
A |
C |
4: 144,349,899 (GRCm39) |
K385N |
probably benign |
Het |
| Abcb4 |
A |
T |
5: 8,965,125 (GRCm39) |
T332S |
possibly damaging |
Het |
| Aco2 |
G |
A |
15: 81,794,117 (GRCm39) |
|
probably null |
Het |
| Aplf |
G |
T |
6: 87,640,739 (GRCm39) |
S69Y |
probably damaging |
Het |
| Arhgap27 |
A |
G |
11: 103,224,388 (GRCm39) |
|
probably benign |
Het |
| B4galnt1 |
T |
A |
10: 127,005,684 (GRCm39) |
Y262N |
probably damaging |
Het |
| Bag4 |
C |
T |
8: 26,259,516 (GRCm39) |
A228T |
probably benign |
Het |
| Ccdc62 |
T |
G |
5: 124,068,925 (GRCm39) |
|
probably null |
Het |
| Cd109 |
T |
A |
9: 78,579,871 (GRCm39) |
I649K |
probably benign |
Het |
| Cd209b |
T |
C |
8: 3,974,215 (GRCm39) |
E99G |
probably damaging |
Het |
| Cep290 |
A |
G |
10: 100,359,126 (GRCm39) |
K952R |
probably benign |
Het |
| Ces2a |
A |
G |
8: 105,463,938 (GRCm39) |
H190R |
probably benign |
Het |
| Clec14a |
A |
G |
12: 58,314,489 (GRCm39) |
S378P |
probably benign |
Het |
| Dennd3 |
A |
G |
15: 73,395,344 (GRCm39) |
T146A |
probably damaging |
Het |
| Dpy19l4 |
T |
A |
4: 11,277,970 (GRCm39) |
M486L |
probably benign |
Het |
| Dysf |
C |
A |
6: 84,074,697 (GRCm39) |
D499E |
probably damaging |
Het |
| Eif4enif1 |
T |
G |
11: 3,170,323 (GRCm39) |
H125Q |
probably damaging |
Het |
| Fcgbp |
A |
T |
7: 27,794,386 (GRCm39) |
M1197L |
probably benign |
Het |
| Fubp3 |
C |
T |
2: 31,498,122 (GRCm39) |
T92I |
probably benign |
Het |
| Gm19426 |
T |
C |
2: 84,573,803 (GRCm39) |
|
probably null |
Het |
| Gtf2ird2 |
A |
G |
5: 134,245,140 (GRCm39) |
H466R |
probably damaging |
Het |
| Hdac5 |
T |
C |
11: 102,093,019 (GRCm39) |
S573G |
probably damaging |
Het |
| Iars2 |
A |
T |
1: 185,021,554 (GRCm39) |
M916K |
probably benign |
Het |
| Insr |
A |
T |
8: 3,261,346 (GRCm39) |
|
probably benign |
Het |
| Itgam |
T |
C |
7: 127,700,709 (GRCm39) |
V493A |
probably damaging |
Het |
| Ivl |
T |
A |
3: 92,479,057 (GRCm39) |
K336I |
probably damaging |
Het |
| Kcng2 |
A |
G |
18: 80,366,067 (GRCm39) |
I95T |
probably damaging |
Het |
| Lap3 |
A |
G |
5: 45,668,480 (GRCm39) |
R431G |
probably damaging |
Het |
| Lrrc66 |
T |
C |
5: 73,787,005 (GRCm39) |
H115R |
probably benign |
Het |
| Morc3 |
T |
C |
16: 93,670,126 (GRCm39) |
V767A |
probably benign |
Het |
| Mttp |
A |
G |
3: 137,839,859 (GRCm39) |
|
probably benign |
Het |
| Myo1c |
C |
T |
11: 75,560,856 (GRCm39) |
R770* |
probably null |
Het |
| Nat9 |
G |
A |
11: 115,074,269 (GRCm39) |
T133M |
probably damaging |
Het |
| Nectin4 |
T |
C |
1: 171,212,714 (GRCm39) |
I349T |
probably benign |
Het |
| Nlrp4a |
A |
G |
7: 26,163,533 (GRCm39) |
E900G |
probably benign |
Het |
| Nlrp9c |
A |
T |
7: 26,084,265 (GRCm39) |
M438K |
probably benign |
Het |
| Or2y14 |
T |
A |
11: 49,405,216 (GRCm39) |
Y250* |
probably null |
Het |
| Or52p2 |
A |
T |
7: 102,237,043 (GRCm39) |
D302E |
probably benign |
Het |
| Or5b21 |
A |
T |
19: 12,839,261 (GRCm39) |
I41F |
probably benign |
Het |
| Parp6 |
T |
C |
9: 59,549,052 (GRCm39) |
I507T |
probably damaging |
Het |
| Pde6c |
G |
A |
19: 38,169,341 (GRCm39) |
E804K |
possibly damaging |
Het |
| Plscr2 |
A |
G |
9: 92,173,067 (GRCm39) |
Y203C |
probably damaging |
Het |
| Ptprs |
A |
G |
17: 56,735,067 (GRCm39) |
W216R |
probably damaging |
Het |
| Rhof |
T |
A |
5: 123,258,454 (GRCm39) |
T126S |
probably benign |
Het |
| Riox2 |
A |
G |
16: 59,296,045 (GRCm39) |
I49V |
probably benign |
Het |
| Rlig1 |
T |
C |
10: 100,414,243 (GRCm39) |
I139V |
probably benign |
Het |
| Rusf1 |
A |
G |
7: 127,873,852 (GRCm39) |
V345A |
probably benign |
Het |
| Shld2 |
A |
G |
14: 33,989,790 (GRCm39) |
V372A |
probably benign |
Het |
| Spata31e2 |
A |
T |
1: 26,723,521 (GRCm39) |
V553D |
possibly damaging |
Het |
| Tmc6 |
A |
T |
11: 117,659,774 (GRCm39) |
C750S |
probably benign |
Het |
| Tmem231 |
C |
A |
8: 112,660,418 (GRCm39) |
|
probably benign |
Het |
| Tmem94 |
T |
A |
11: 115,677,121 (GRCm39) |
I131N |
possibly damaging |
Het |
| Tmx3 |
T |
C |
18: 90,539,163 (GRCm39) |
|
probably null |
Het |
| Tnfrsf21 |
C |
T |
17: 43,349,123 (GRCm39) |
T245I |
possibly damaging |
Het |
| Ttbk2 |
C |
A |
2: 120,570,342 (GRCm39) |
R1201S |
probably damaging |
Het |
| Vmn2r102 |
A |
T |
17: 19,914,576 (GRCm39) |
M714L |
probably benign |
Het |
| Vmn2r109 |
A |
G |
17: 20,761,605 (GRCm39) |
L584S |
probably damaging |
Het |
| Vmn2r53 |
T |
A |
7: 12,335,129 (GRCm39) |
H177L |
probably benign |
Het |
| Vnn1 |
T |
A |
10: 23,773,250 (GRCm39) |
D92E |
probably benign |
Het |
| Zan |
T |
C |
5: 137,444,974 (GRCm39) |
I1762V |
unknown |
Het |
| Zbtb20 |
G |
T |
16: 43,431,039 (GRCm39) |
A517S |
probably damaging |
Het |
| Zfhx4 |
A |
G |
3: 5,310,563 (GRCm39) |
|
probably null |
Het |
| Zfp560 |
T |
C |
9: 20,263,214 (GRCm39) |
E54G |
possibly damaging |
Het |
| Zfp719 |
C |
T |
7: 43,239,656 (GRCm39) |
H415Y |
probably damaging |
Het |
| Zmynd11 |
A |
C |
13: 9,745,789 (GRCm39) |
V188G |
probably damaging |
Het |
|
| Other mutations in Col27a1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01305:Col27a1
|
APN |
4 |
63,218,978 (GRCm39) |
splice site |
probably benign |
|
|
IGL01461:Col27a1
|
APN |
4 |
63,142,480 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01534:Col27a1
|
APN |
4 |
63,144,019 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL01738:Col27a1
|
APN |
4 |
63,182,016 (GRCm39) |
splice site |
probably benign |
|
|
IGL01810:Col27a1
|
APN |
4 |
63,143,868 (GRCm39) |
missense |
probably benign |
0.21 |
|
IGL02127:Col27a1
|
APN |
4 |
63,143,379 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
IGL02290:Col27a1
|
APN |
4 |
63,144,163 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02374:Col27a1
|
APN |
4 |
63,211,486 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL02548:Col27a1
|
APN |
4 |
63,236,492 (GRCm39) |
splice site |
probably benign |
|
|
IGL02792:Col27a1
|
APN |
4 |
63,233,820 (GRCm39) |
missense |
unknown |
|
|
IGL02931:Col27a1
|
APN |
4 |
63,249,663 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL03107:Col27a1
|
APN |
4 |
63,242,869 (GRCm39) |
splice site |
probably benign |
|
|
IGL03121:Col27a1
|
APN |
4 |
63,143,446 (GRCm39) |
missense |
probably benign |
0.26 |
|
IGL03334:Col27a1
|
APN |
4 |
63,232,959 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0005:Col27a1
|
UTSW |
4 |
63,143,637 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0025:Col27a1
|
UTSW |
4 |
63,194,214 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0141:Col27a1
|
UTSW |
4 |
63,183,870 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0196:Col27a1
|
UTSW |
4 |
63,142,503 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0359:Col27a1
|
UTSW |
4 |
63,232,964 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0375:Col27a1
|
UTSW |
4 |
63,143,898 (GRCm39) |
missense |
probably benign |
0.23 |
|
R0432:Col27a1
|
UTSW |
4 |
63,143,848 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R0499:Col27a1
|
UTSW |
4 |
63,218,978 (GRCm39) |
splice site |
probably benign |
|
|
R0786:Col27a1
|
UTSW |
4 |
63,209,815 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0891:Col27a1
|
UTSW |
4 |
63,223,420 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1239:Col27a1
|
UTSW |
4 |
63,237,152 (GRCm39) |
splice site |
probably benign |
|
|
R1297:Col27a1
|
UTSW |
4 |
63,183,868 (GRCm39) |
splice site |
probably benign |
|
|
R1299:Col27a1
|
UTSW |
4 |
63,183,868 (GRCm39) |
splice site |
probably benign |
|
|
R1322:Col27a1
|
UTSW |
4 |
63,246,803 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R1342:Col27a1
|
UTSW |
4 |
63,175,351 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1446:Col27a1
|
UTSW |
4 |
63,143,040 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1629:Col27a1
|
UTSW |
4 |
63,248,100 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R1644:Col27a1
|
UTSW |
4 |
63,246,868 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R1774:Col27a1
|
UTSW |
4 |
63,143,950 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1807:Col27a1
|
UTSW |
4 |
63,249,586 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R1952:Col27a1
|
UTSW |
4 |
63,202,130 (GRCm39) |
splice site |
probably null |
|
|
R1957:Col27a1
|
UTSW |
4 |
63,196,031 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1970:Col27a1
|
UTSW |
4 |
63,191,354 (GRCm39) |
splice site |
probably benign |
|
|
R2164:Col27a1
|
UTSW |
4 |
63,143,661 (GRCm39) |
missense |
probably benign |
0.21 |
|
R3774:Col27a1
|
UTSW |
4 |
63,232,963 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4078:Col27a1
|
UTSW |
4 |
63,142,669 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4353:Col27a1
|
UTSW |
4 |
63,143,868 (GRCm39) |
missense |
probably benign |
0.21 |
|
R4611:Col27a1
|
UTSW |
4 |
63,211,743 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4884:Col27a1
|
UTSW |
4 |
63,194,197 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R5149:Col27a1
|
UTSW |
4 |
63,249,664 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R5411:Col27a1
|
UTSW |
4 |
63,142,902 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5451:Col27a1
|
UTSW |
4 |
63,143,476 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5615:Col27a1
|
UTSW |
4 |
63,199,351 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5657:Col27a1
|
UTSW |
4 |
63,143,547 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5838:Col27a1
|
UTSW |
4 |
63,143,765 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6230:Col27a1
|
UTSW |
4 |
63,142,519 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6326:Col27a1
|
UTSW |
4 |
63,242,678 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R6457:Col27a1
|
UTSW |
4 |
63,237,701 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R6624:Col27a1
|
UTSW |
4 |
63,143,248 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6792:Col27a1
|
UTSW |
4 |
63,235,740 (GRCm39) |
missense |
unknown |
|
|
R6848:Col27a1
|
UTSW |
4 |
63,220,608 (GRCm39) |
missense |
probably benign |
|
|
R6962:Col27a1
|
UTSW |
4 |
63,237,738 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R7053:Col27a1
|
UTSW |
4 |
63,251,404 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R7206:Col27a1
|
UTSW |
4 |
63,153,583 (GRCm39) |
missense |
probably benign |
0.29 |
|
R7586:Col27a1
|
UTSW |
4 |
63,143,278 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7698:Col27a1
|
UTSW |
4 |
63,143,955 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R7714:Col27a1
|
UTSW |
4 |
63,242,723 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7916:Col27a1
|
UTSW |
4 |
63,142,789 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7943:Col27a1
|
UTSW |
4 |
63,236,520 (GRCm39) |
missense |
unknown |
|
|
R7988:Col27a1
|
UTSW |
4 |
63,249,559 (GRCm39) |
missense |
unknown |
|
|
R8136:Col27a1
|
UTSW |
4 |
63,202,190 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8243:Col27a1
|
UTSW |
4 |
63,144,120 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8245:Col27a1
|
UTSW |
4 |
63,144,040 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8350:Col27a1
|
UTSW |
4 |
63,248,134 (GRCm39) |
missense |
unknown |
|
|
R8437:Col27a1
|
UTSW |
4 |
63,237,701 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R8450:Col27a1
|
UTSW |
4 |
63,248,134 (GRCm39) |
missense |
unknown |
|
|
R8542:Col27a1
|
UTSW |
4 |
63,239,662 (GRCm39) |
splice site |
probably null |
|
|
R8745:Col27a1
|
UTSW |
4 |
63,144,153 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8821:Col27a1
|
UTSW |
4 |
63,143,148 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8951:Col27a1
|
UTSW |
4 |
63,191,311 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8970:Col27a1
|
UTSW |
4 |
63,134,105 (GRCm39) |
missense |
unknown |
|
|
R9115:Col27a1
|
UTSW |
4 |
63,231,974 (GRCm39) |
missense |
unknown |
|
|
R9185:Col27a1
|
UTSW |
4 |
63,246,887 (GRCm39) |
missense |
unknown |
|
|
R9291:Col27a1
|
UTSW |
4 |
63,142,539 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9404:Col27a1
|
UTSW |
4 |
63,194,178 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
Z1176:Col27a1
|
UTSW |
4 |
63,144,025 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Col27a1
|
UTSW |
4 |
63,199,526 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGAAGCCACCTAGCTGTAG -3'
(R):5'- AATCCCCTGCTATCGGACAC -3'
Sequencing Primer
(F):5'- GCTGTAGAGCATCTTTGAATTCC -3'
(R):5'- TTGCCCTGGATTGAATAAGGACC -3'
|
| Posted On |
2015-10-21 |
Incidental Mutation